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Case Reports
. 2025 Oct 17:16:1676039.
doi: 10.3389/fgene.2025.1676039. eCollection 2025.

Case Report: von Hippel-Lindau (VHL) disease: a young female presenting with multiple organ tumors

Jingyuan Li  1 , Yun Ti  1 , Xiao Yang  1 , Keqiang Yan  2 , Tongshuai Chen  1 , Tao Guo  1 , Qin Hu  1 , Cheng Zhang  1 , Peili Bu  1
Affiliations
Case Reports

Case Report: von Hippel-Lindau (VHL) disease: a young female presenting with multiple organ tumors

Jingyuan Li et al. Front Genet. .

Abstract

This report presents a case involving a young female patient diagnosed with von Hippel-Lindau (VHL) syndrome. The patient developed multiple sequential tumors, including spinal cord hemangioblastoma, multiple pancreatic cysts, and pheochromocytoma. Whole-genome sequencing identified a deletion mutation in exon 3 of the VHL gene, challenging the previous understanding that VHL deletion mutations are highly prevalent in hemangioblastoma and renal cell carcinoma but uncommon in pheochromocytoma. This case underscores the importance of considering hereditary genetic syndromes in patients presenting with hypertension and multi-system tumor involvement. Comprehensive evaluation, standardized familial screening, and genetic testing play a crucial role in guiding treatment decisions for affected individuals.

Keywords: multiple pancreatic cysts; pheochromocytoma; secondary hypertension; spinal cord hemangioblastoma; von Hippel-Lindau (VHL) disease.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Spinal cord magnetic resonance imaging in 2020 showing a space-occupying lesion within the spinal canal at the T2-T5 level. (A) T1-weighted magnetic resonance image. (B) T2-weighted magnetic resonance image.
FIGURE 2
FIGURE 2
Adrenal gland imaging showing a space-occupying lesion in the left adrenal gland. (A) Adrenal glands in 2020. (B,C) Tumor of the right adrenal gland in 2025. (D–F) High-intensity FDG uptake of the mass in the right adrenal area in PET-CT.
FIGURE 3
FIGURE 3
Pancreatic imaging showing multiple pancreatic cysts. (A) Pancreatic cysts in 2020. (B,C) Pancreatic cysts in 2025.
FIGURE 4
FIGURE 4
Adrenal mass imaging. (A,B) Gross image. (C,D) HE staining of tumor sections.
See this image and copyright information in PMC

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